Asperger Syndrome, Susceptibility To, 4
Description
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.
For a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 (608638).
MappingYlisaukko-oja et al. (2004) performed a genomewide scan on 17 Finnish families ascertained for Asperger syndrome with a strictly defined phenotype. They obtained evidence for linkage on chromosome 3p24-p14 with a maximum 2-point lod score of 2.50 at theta = 0.00 for marker D3S2432.
Rehnstrom et al. (2006) enlarged the study of Asperger syndrome in Finnish families by analyzing an independent set of 12 novel extended Asperger families with 54 individuals having Asperger syndrome or Asperger-like symptoms. The new dataset, like the first (Ylisaukko-oja et al., 2004), supported linkage to 3p24-p21. When statistical analyses were performed including the families from the original genomewide screen, a maximum multipoint nonparametric linkage score of 3.83 was obtained at marker D3S2432. The results of the linkage study were further supported by evidence of association in the region.